Submissions for variant NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys)

gnomAD frequency: 0.00128  dbSNP: rs149534094

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000246020	SCV000229788	benign	not specified	2015-08-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000339306	SCV000436581	benign	Collagen 6-related myopathy	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000246020	SCV000532519	benign	not specified	2016-11-17	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000532641	SCV000657054	benign	Bethlem myopathy 1A	2025-01-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430729	SCV004146770	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	COL6A1: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003430729	SCV005207656	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004734794	SCV000308216	benign	not specified	2024-08-08	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).